Varaico: Literature-Extracted Genetic Variants

ZNF346

21 papers

RefSeq Summary

The protein encoded by this gene is a nucleolar, zinc finger protein that preferentially binds to double-stranded (ds) RNA or RNA/DNA hybrids, rather than DNA alone. Mutational studies indicate that t...

Pfam Domains

zf-metaa 63–87UCSCZinc-finger of C2H2 type

zf-metaa 73–97UCSCZinc-finger of C2H2 type

zf-metaa 87–111UCSCZinc-finger of C2H2 type

Gene Aliases

HGNC Name

zinc finger protein 346

HGNC Alias Symbols

JAZ; Zfp346

Papers

RefSeq ID

Protein change

DNA change

1–12 of 14 variants

2 papers

NM_012279.4

p.G50S

c.148G>A

1 paper

NM_012279.4

p.E58D

c.174A>T

1 paper

NM_012279.4

p.S86S

c.258C>A

1 paper

NM_012279.4

p.Q93_S94Splc

c.280-3C>T

1 paper

NM_012279.4

p.K96insFs

c.288dupA

1 paper

NM_012279.4

p.K102R

c.305A>G

1 paper

NM_012279.4

p.L105P

c.314T>C

1 paper

NM_012279.4

p.H108Y

c.322C>T

1 paper

NM_012279.4

p.S127I

c.380G>T

1 paper

NM_012279.4

p.C135fs

c.403_404fs

1 paper

NM_012279.4

p.S144S

c.432C>T

1 paper

NM_012279.4

p.D184E

c.552C>A